Product Details

SNP ID

rs7833

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.3:139357096 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ATTGAGCTAAATGTTAAAAAATGGC[C/T]AGATTAAAAGATATCAATTTGTAGT

Phenotype

MIM: 606990 MIM: 605810

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

COPB2 PubMed Links

Additional Information

For this assay, SNP(s) [rs80049554] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

COPB2

Gene Name

coatomer protein complex subunit beta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004766.2	3803	Intron			NP_004757.1
XM_017007512.1	3803	UTR 3			XP_016863001.1
XM_017007513.1	3803	UTR 3			XP_016863002.1

Gene

MRPS22

Gene Name

mitochondrial ribosomal protein S22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020191.2	3803	Intron			NP_064576.1
XM_005247640.2	3803	UTR 3			XP_005247697.1
XM_006713703.3	3803	UTR 3			XP_006713766.1
XM_011512995.2	3803	UTR 3			XP_011511297.1
XM_011512996.2	3803	UTR 3			XP_011511298.1

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